Disease Directory

Combined oxidative phosphorylation deficiency 52 is a severe metabolic condition that affects multiple organ systems, including the liver, heart, musc...

Combined oxidative phosphorylation deficiency 53 is an autosomal recessive condition that affects multiple organ systems, most the central nervous sys...

Combined oxidative phosphorylation deficiency 54 is a multisystem disorder primarily affecting several organ systems, including the nervous system and...

Combined oxidative phosphorylation deficiency 55 is a multisystem condition that primarily affects energy production within cells. It is associated wi...

Combined oxidative phosphorylation deficiency 56 is a multisystem disorder that primarily affects mitochondrial energy production, with a significant...

Combined oxidative phosphorylation deficiency 57 is a mitochondrial disorder characterized by impaired energy production affecting several organ syste...

Combined oxidative phosphorylation deficiency 58 is a multisystem disorder that affects several organ systems including the central nervous system, mu...

Combined oxidative phosphorylation deficiency 59 is a multisystem condition that affects energy production in cells, particularly impacting both the c...

Combined oxidative phosphorylation deficiency 60 is a condition that appears to affect energy production in the body, likely impacting multiple organ...

Combined pancreatic lipase-colipase deficiency is a disorder of lipid absorption and transport that manifests with malabsorption of dietary fats. Affe...

Combined pituitary hormone deficiencies, genetic form is a congenital condition that affects the production of several key hormones due to impaired pi...

Combined pulmonary fibrosis-emphysema syndrome (also known as CPFE) is a condition affecting the lungs where features of both fibrosis and emphysema a...

Combined small cell lung carcinoma is a morphologic variant of small cell lung carcinoma that coexists with a non-small cell carcinoma. Currently, no...

Combined thymoma is a condition affecting the thymic region, and current understanding focuses on its presentation as a tumor-related disorder in the...

Commissural facial cleft is a congenital condition characterized by an abnormally wide mouth resulting from the failure of the maxillary and mandibula...

Commissural lip fistula is a rare otorhinolaryngologic condition that manifests as a fistula at the corner of the mouth, where the upper and lower lip...

Common arterial trunk with aortic dominance is a congenital heart defect in which a single arterial vessel emerges from the heart with an aortic predo...

Common arterial trunk with pulmonary dominance and interrupted aortic arch is a complex congenital heart defect that affects the structure and functio...

Common peroneal nerve lesion is a condition characterized by an injury to the common fibular nerve, a peripheral nerve in the leg. This condition fall...

Common variable immunodeficiency (CVID) is characterized by significant hypogammaglobulinemia and a failure to produce specific antibodies after immun...